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Illumina, GeneDx Partner With University of Washington on Whole-Genome Sequencing Study in Kids

NEW YORK – Illumina, GeneDx, and the University of Washington School of Medicine Brotman Baty Institute for Precision Medicine are collaborating on a study using whole-genome sequencing to diagnose children with suspected developmental differences and critically ill infants.

The SeqFirst study will provide WGS to 100 children suspected of having developmental differences. GeneDx will perform sequencing with reagents provided by Illumina. Researchers will review medical records of participants for two years after enrollment and complete the study in three years. After one year, the team will report interim results and make recommendations for improvements to existing policies in genetic testing.

In another branch of the study, the researchers will provide WGS for critically ill infants immediately upon hospitalization at Seattle Children's Hospital. GeneDx will provide the laboratory-based testing. SeqFirst hopes to enroll 100 patients in neonatal intensive care units, or NICUs, and show improved outcomes due to earlier diagnoses and demonstrate the cost effectiveness of WGS as a first-line test.

In August 2020, GeneDx, part of Opko Health, signed a deal to provide genomic services to NICUs associated with Pediatrix Medical Group.

In August 2019, Illumina launched a newborn sequencing study with the Children's Hospital of Fudan University in China.